Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan

Abstract BRCA1 and BRCA2 mutations are not uncommon in breast cancer patients. Western studies show that such mutations are more prevalent among younger patients. This study evaluates the prevalence of germline mutations in BRCA1 and BRCA2 among breast cancer patients diagnosed at age 40 or younger...

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Autores principales:	Hikmat Abdel-Razeq, Lama Abujamous, Mahmoud Abunasser, Sara Edaily, Rayan Bater
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/fd378a03bc1a46e2a09bf21c791bb953
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spelling	oai:doaj.org-article:fd378a03bc1a46e2a09bf21c791bb9532021-12-02T17:55:13ZPrevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan10.1038/s41598-021-94403-12045-2322https://doaj.org/article/fd378a03bc1a46e2a09bf21c791bb9532021-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-94403-1https://doaj.org/toc/2045-2322Abstract BRCA1 and BRCA2 mutations are not uncommon in breast cancer patients. Western studies show that such mutations are more prevalent among younger patients. This study evaluates the prevalence of germline mutations in BRCA1 and BRCA2 among breast cancer patients diagnosed at age 40 or younger in Jordan. Blood samples of patients with breast cancer diagnosed at age 40 years or younger were obtained for DNA extraction and BRCA sequencing. Mutations were classified as benign/likely benign (non-carrier), pathogenic/likely pathogenic variant (carrier) and variant of uncertain significance (VUS). Genetic testing and counseling were completed on 616 eligible patients. Among the whole group, 75 (12.2%) had pathogenic or likely pathogenic variants; two of the BRCA2 mutations were novel. In multivariate analysis, triple-negative disease (Odd Ratio [OR]: 5.37; 95% CI 2.88–10.02, P < 0.0001), breast cancer in ≥ 2 family members (OR: 4.44; 95% CI 2.52–7.84, P < 0.0001), and a personal history ≥ 2 primary breast cancers (OR: 3.43; 95% CI 1.62–7.24, P = 0.001) were associated with higher mutation rates. In conclusion, among young Jordanian patients with breast cancer, mutation rates are significantly higher in patients with triple-negative disease, personal history of breast cancer and those with two or more close relatives with breast cancer.Hikmat Abdel-RazeqLama AbujamousMahmoud AbunasserSara EdailyRayan BaterNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Hikmat Abdel-Razeq Lama Abujamous Mahmoud Abunasser Sara Edaily Rayan Bater Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan
description	Abstract BRCA1 and BRCA2 mutations are not uncommon in breast cancer patients. Western studies show that such mutations are more prevalent among younger patients. This study evaluates the prevalence of germline mutations in BRCA1 and BRCA2 among breast cancer patients diagnosed at age 40 or younger in Jordan. Blood samples of patients with breast cancer diagnosed at age 40 years or younger were obtained for DNA extraction and BRCA sequencing. Mutations were classified as benign/likely benign (non-carrier), pathogenic/likely pathogenic variant (carrier) and variant of uncertain significance (VUS). Genetic testing and counseling were completed on 616 eligible patients. Among the whole group, 75 (12.2%) had pathogenic or likely pathogenic variants; two of the BRCA2 mutations were novel. In multivariate analysis, triple-negative disease (Odd Ratio [OR]: 5.37; 95% CI 2.88–10.02, P < 0.0001), breast cancer in ≥ 2 family members (OR: 4.44; 95% CI 2.52–7.84, P < 0.0001), and a personal history ≥ 2 primary breast cancers (OR: 3.43; 95% CI 1.62–7.24, P = 0.001) were associated with higher mutation rates. In conclusion, among young Jordanian patients with breast cancer, mutation rates are significantly higher in patients with triple-negative disease, personal history of breast cancer and those with two or more close relatives with breast cancer.
format	article
author	Hikmat Abdel-Razeq Lama Abujamous Mahmoud Abunasser Sara Edaily Rayan Bater
author_facet	Hikmat Abdel-Razeq Lama Abujamous Mahmoud Abunasser Sara Edaily Rayan Bater
author_sort	Hikmat Abdel-Razeq
title	Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan
title_short	Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan
title_full	Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan
title_fullStr	Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan
title_full_unstemmed	Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan
title_sort	prevalence and predictors of germline brca1 and brca2 mutations among young patients with breast cancer in jordan
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/fd378a03bc1a46e2a09bf21c791bb953
work_keys_str_mv	AT hikmatabdelrazeq prevalenceandpredictorsofgermlinebrca1andbrca2mutationsamongyoungpatientswithbreastcancerinjordan AT lamaabujamous prevalenceandpredictorsofgermlinebrca1andbrca2mutationsamongyoungpatientswithbreastcancerinjordan AT mahmoudabunasser prevalenceandpredictorsofgermlinebrca1andbrca2mutationsamongyoungpatientswithbreastcancerinjordan AT saraedaily prevalenceandpredictorsofgermlinebrca1andbrca2mutationsamongyoungpatientswithbreastcancerinjordan AT rayanbater prevalenceandpredictorsofgermlinebrca1andbrca2mutationsamongyoungpatientswithbreastcancerinjordan
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Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan

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